Incidental Mutation 'R8140:Mfsd2a'
ID 632470
Institutional Source Beutler Lab
Gene Symbol Mfsd2a
Ensembl Gene ENSMUSG00000028655
Gene Name MFSD2 lysolipid transporter A, lysophospholipid
Synonyms 1700018O18Rik, Mfsd2, major facilitator superfamily domain containing 2A
MMRRC Submission 067568-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R8140 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 122840643-122854981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122843091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 397 (V397I)
Ref Sequence ENSEMBL: ENSMUSP00000030408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030408]
AlphaFold Q9DA75
Predicted Effect probably benign
Transcript: ENSMUST00000030408
AA Change: V397I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: V397I

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 27 39 N/A INTRINSIC
Pfam:MFS_2 44 500 1.7e-96 PFAM
Pfam:MFS_1 57 450 9.3e-12 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 93.9%
Validation Efficiency 97% (64/66)
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,954 (GRCm39) V230E possibly damaging Het
Amotl1 G A 9: 14,484,011 (GRCm39) probably null Het
Atp7b C A 8: 22,518,576 (GRCm39) E87D probably damaging Het
Bcat2 C T 7: 45,237,775 (GRCm39) P347L probably damaging Het
Brox A T 1: 183,075,437 (GRCm39) probably null Het
Cd37 A G 7: 44,887,959 (GRCm39) I58T probably damaging Het
Cep295 A T 9: 15,252,829 (GRCm39) M333K probably benign Het
Chtop A G 3: 90,412,700 (GRCm39) probably null Het
Cpa2 A T 6: 30,544,904 (GRCm39) K54N probably benign Het
Cpa6 A G 1: 10,395,519 (GRCm39) S383P probably damaging Het
Dnah7a A T 1: 53,540,748 (GRCm39) I2542N probably benign Het
Eif5b G A 1: 38,090,357 (GRCm39) V1179I probably benign Het
Erbin T C 13: 104,056,802 (GRCm39) probably null Het
Fastkd5 A T 2: 130,457,170 (GRCm39) D473E possibly damaging Het
Fchsd1 T C 18: 38,097,395 (GRCm39) E372G probably damaging Het
Fgl1 T C 8: 41,653,646 (GRCm39) probably null Het
Fzd8 T G 18: 9,213,797 (GRCm39) V293G probably damaging Het
Gm4787 T A 12: 81,424,925 (GRCm39) H411L probably benign Het
Gm49380 G T 9: 44,023,269 (GRCm39) D326E probably benign Het
Hcrtr1 G A 4: 130,029,083 (GRCm39) R240C probably damaging Het
Hdac5 A T 11: 102,088,181 (GRCm39) Y948N probably damaging Het
Hepacam A G 9: 37,295,167 (GRCm39) S301G probably benign Het
Htra4 A T 8: 25,520,574 (GRCm39) D362E possibly damaging Het
Ighv1-9 G A 12: 114,547,361 (GRCm39) P60L probably damaging Het
Kcnq3 A G 15: 65,867,390 (GRCm39) I751T probably damaging Het
Magi3 T C 3: 103,941,402 (GRCm39) Y851C probably damaging Het
Mefv A G 16: 3,531,499 (GRCm39) S470P probably benign Het
Mroh1 C A 15: 76,318,073 (GRCm39) H867N probably benign Het
Mthfd1l C T 10: 3,957,745 (GRCm39) R261* probably null Het
Myo3a A G 2: 22,412,157 (GRCm39) I725M probably damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nek11 G T 9: 105,270,156 (GRCm39) P22Q probably damaging Het
Or4p18 T C 2: 88,232,457 (GRCm39) T274A possibly damaging Het
Or5k15 T C 16: 58,709,948 (GRCm39) T212A probably benign Het
Or9q2 A T 19: 13,772,603 (GRCm39) V124E possibly damaging Het
Peg10 C G 6: 4,756,113 (GRCm39) Q230E unknown Het
Pipox T C 11: 77,774,735 (GRCm39) D116G probably benign Het
Pkd1l2 C T 8: 117,774,236 (GRCm39) R993H probably benign Het
Pkdrej A C 15: 85,702,611 (GRCm39) N1108K probably damaging Het
Polr2a C T 11: 69,637,202 (GRCm39) R291Q probably benign Het
Pomt1 T A 2: 32,134,309 (GRCm39) Y277N probably damaging Het
Rasal2 A G 1: 157,126,805 (GRCm39) S78P probably damaging Het
Rgl1 A T 1: 152,433,252 (GRCm39) L171Q probably damaging Het
Sfta2 A G 17: 35,912,666 (GRCm39) E14G unknown Het
Sh3rf3 T A 10: 58,885,177 (GRCm39) S353R possibly damaging Het
Slc37a1 A T 17: 31,541,233 (GRCm39) I242F probably damaging Het
Srfbp1 T A 18: 52,621,762 (GRCm39) D274E probably damaging Het
Syne2 T A 12: 75,959,127 (GRCm39) S685R possibly damaging Het
Tenm4 A C 7: 96,544,383 (GRCm39) D2170A probably damaging Het
Tnr A G 1: 159,691,265 (GRCm39) T472A probably damaging Het
Tspan9 T C 6: 127,942,241 (GRCm39) H203R probably damaging Het
Ttn T C 2: 76,601,995 (GRCm39) T18556A possibly damaging Het
Usp25 T A 16: 76,868,569 (GRCm39) Y323* probably null Het
Usp31 G T 7: 121,248,249 (GRCm39) R1065S possibly damaging Het
Vmn2r103 A T 17: 20,032,058 (GRCm39) T611S probably damaging Het
Wdfy4 A G 14: 32,864,317 (GRCm39) V552A Het
Zap70 G T 1: 36,810,262 (GRCm39) R124L possibly damaging Het
Zfand6 A T 7: 84,281,957 (GRCm39) S91T possibly damaging Het
Other mutations in Mfsd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Mfsd2a APN 4 122,843,100 (GRCm39) missense probably benign 0.32
IGL02756:Mfsd2a APN 4 122,842,332 (GRCm39) missense probably benign 0.30
azure UTSW 4 122,845,814 (GRCm39) missense possibly damaging 0.66
R0355:Mfsd2a UTSW 4 122,845,632 (GRCm39) missense possibly damaging 0.64
R0394:Mfsd2a UTSW 4 122,843,961 (GRCm39) missense probably benign 0.26
R2002:Mfsd2a UTSW 4 122,850,609 (GRCm39) missense probably damaging 1.00
R2516:Mfsd2a UTSW 4 122,844,280 (GRCm39) missense probably damaging 1.00
R2943:Mfsd2a UTSW 4 122,842,382 (GRCm39) missense possibly damaging 0.87
R3052:Mfsd2a UTSW 4 122,845,635 (GRCm39) missense probably damaging 1.00
R4811:Mfsd2a UTSW 4 122,853,175 (GRCm39) missense probably benign 0.28
R4977:Mfsd2a UTSW 4 122,844,302 (GRCm39) missense probably benign
R5030:Mfsd2a UTSW 4 122,843,949 (GRCm39) missense possibly damaging 0.90
R5231:Mfsd2a UTSW 4 122,853,094 (GRCm39) missense possibly damaging 0.88
R5735:Mfsd2a UTSW 4 122,843,120 (GRCm39) missense probably damaging 0.98
R6173:Mfsd2a UTSW 4 122,845,039 (GRCm39) missense probably benign
R6321:Mfsd2a UTSW 4 122,843,165 (GRCm39) missense probably benign 0.06
R6433:Mfsd2a UTSW 4 122,844,250 (GRCm39) missense probably benign 0.01
R6736:Mfsd2a UTSW 4 122,845,054 (GRCm39) missense probably benign
R6793:Mfsd2a UTSW 4 122,844,498 (GRCm39) missense probably benign 0.02
R7073:Mfsd2a UTSW 4 122,845,088 (GRCm39) missense possibly damaging 0.91
R7255:Mfsd2a UTSW 4 122,845,814 (GRCm39) missense possibly damaging 0.66
R7382:Mfsd2a UTSW 4 122,845,916 (GRCm39) missense possibly damaging 0.53
R7868:Mfsd2a UTSW 4 122,850,648 (GRCm39) missense possibly damaging 0.93
R8095:Mfsd2a UTSW 4 122,845,064 (GRCm39) missense probably damaging 1.00
R8136:Mfsd2a UTSW 4 122,845,660 (GRCm39) missense probably benign 0.27
R8832:Mfsd2a UTSW 4 122,843,102 (GRCm39) missense probably benign 0.01
R8842:Mfsd2a UTSW 4 122,845,623 (GRCm39) missense probably damaging 0.98
R9048:Mfsd2a UTSW 4 122,854,768 (GRCm39) missense probably benign
R9084:Mfsd2a UTSW 4 122,843,994 (GRCm39) missense probably damaging 1.00
Z1176:Mfsd2a UTSW 4 122,853,104 (GRCm39) missense possibly damaging 0.71
Z1176:Mfsd2a UTSW 4 122,845,632 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TAGACATTCTGCTTGGCAAAGAG -3'
(R):5'- ACATCGGGATCTCTGTGAGTG -3'

Sequencing Primer
(F):5'- TCTGCTTGGCAAAGAGAGGGC -3'
(R):5'- GTGGCTCAAAGGGCAGAGTTG -3'
Posted On 2020-06-30